Leiden Open Variation Database of the MUTYH gene (Q30484637)

22 June 2017

Leiden Open Variation Database of the MUTYH gene (English)

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Leiden Open Variation Database

22 June 2017

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29

Peter Devilee

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Elke Holinski-Feder

17

Elke Holinski-Feder

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22 June 2017

19

Sylviane Olschwang

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22 June 2017

7

Marie-Pierre Buisine

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Maartje Nielsen

Maartje Nielsen

Kristina Lagerstedt Robinson

3

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Kristina Lagerstedt-Robinson

18

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Riccardo Fodde

Riccardo Fodde

10

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Kathleen Claes

Kathleen Claes

8

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Florentia Fostira

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Florentia Fostira

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22 June 2017

Astrid A Out

1

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22 June 2017

Carli M J Tops

2

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22 June 2017

Marjan M Weiss

4

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22 June 2017

Ivonne J H M van Minderhout

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22 June 2017

Ivo F A C Fokkema

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22 June 2017

Chrystelle Colas

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22 June 2017

Patrick F Franken

12

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22 June 2017

Mette Gaustadnes

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22 June 2017

Karl Heinimann

14

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22 June 2017

Shirley V Hodgson

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22 June 2017

Frans B L Hogervorst

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22 June 2017

Ans M W van den Ouweland

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22 June 2017

Egbert J W Redeker

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22 June 2017

Rodney J Scott

22

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22 June 2017

Bruno Vankeirsbilck

23

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22 June 2017

Rikke Veggerby Grønlund

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22 June 2017

Juul T Wijnen

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22 June 2017

Friedrik P Wikman

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22 June 2017

Stefan Aretz

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22 June 2017

Julian R Sampson

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22 June 2017

Johan T den Dunnen

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22 June 2017

Frederik J Hes

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22 June 2017

1 November 2010

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22 June 2017

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22 June 2017

31

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22 June 2017

1205-1215

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22 June 2017

11

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An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer

22 June 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Germline mutation prevalence in the base excision repair gene,MYH, in patients with endometrial cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Mutations of the MYH gene do not substantially contribute to the risk of breast cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Germline susceptibility to colorectal cancer due to base-excision repair gene defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Genetic variation in the base excision repair pathway and bladder cancer risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21343

1 reference

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2'-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

MutY catalytic core, mutant and bound adenine structures define specificity for DNA repair enzyme superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Genetic alterations of the MYH gene in gastric cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

ASTD: The Alternative Splicing and Transcript Diversity database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

N-terminus of the rat adenine glycosylase MYH affects excision rates and processing of MYH-generated abasic sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Comparative analysis of an unusual gene arrangement in the human chromosome 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

CD-Search: protein domain annotations on the fly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Pathological features of colorectal carcinomas in MYH-associated polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

A database to support the interpretation of human mismatch repair gene variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Human MutY: gene structure, protein functions and interactions, and role in carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

The UCSC Genome Browser database: update 2010

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Database resources of the National Center for Biotechnology Information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Physical and functional interactions between MutY glycosylase homologue (MYH) and checkpoint proteins Rad9-Rad1-Hus1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

MYH mutations are rare in prostate cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

TOE1 interacts with p53 to modulate its transactivation potential

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

The Universal Protein Resource (UniProt) in 2010

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

AceView: a comprehensive cDNA-supported gene and transcripts annotation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Guidelines for the clinical management of familial adenomatous polyposis (FAP).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

High-resolution human core-promoter prediction with CoreBoost_HM.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21343

7 January 2021

Identifiers

DOI

10.1002/HUMU.21343

1 reference

22 June 2017

1 reference